Canonical Allele Identifier: CA400478703

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1731524
• ClinVar RCV Id: RCV002460200
• dbSNP Id: rs757363615
• MyVariant Identifiers: chr17:g.59760959C>A (hg19) ; chr17:g.61683598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683598C>A , CM000679.2:g.61683598C>A	GRCh38
NC_000017.10:g.59760959C>A , CM000679.1:g.59760959C>A	GRCh37
NC_000017.9:g.57115741C>A	NCBI36
NG_007409.2:g.184962G>T , LRG_300:g.184962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2188G>T
ENST00000682453.1:c.3448G>T	ENSP00000506943.1:p.Ala1150Ser
ENST00000682477.1:c.*2874G>T	ENSP00000507075.1:n.*2874G>T
ENST00000682589.1:n.9325G>T
ENST00000682755.1:c.3226G>T	ENSP00000507660.1:p.Ala1076Ser
ENST00000682989.1:c.*539G>T	ENSP00000507786.1:n.*539G>T
ENST00000683039.1:c.3448G>T	ENSP00000508303.1:p.Ala1150Ser
ENST00000683235.1:c.*863G>T	ENSP00000507646.1:n.*863G>T
ENST00000683535.1:n.1578G>T
ENST00000684584.1:c.2611G>T	ENSP00000508044.1:p.Ala871Ser
ENST00000684626.1:n.1694G>T
ENST00000684769.1:c.1638G>T	ENSP00000507691.1:n.1638G>T
ENST00000259008.7:c.3448G>T MANE Select	ENSP00000259008.2:p.Ala1150Ser
ENST00000259008.6:c.3448G>T	ENSP00000259008.2:p.Ala1150Ser
NM_032043.2:c.3448G>T , LRG_300t1:c.3448G>T	NP_114432.2:p.Ala1150Ser
XM_011525332.1:c.3508G>T	XP_011523634.1:p.Ala1170Ser
XM_011525333.1:c.3508G>T	XP_011523635.1:p.Ala1170Ser
XM_011525334.1:c.3508G>T	XP_011523636.1:p.Ala1170Ser
XM_011525335.1:c.3448G>T	XP_011523637.1:p.Ala1150Ser
XM_011525336.1:c.3388G>T	XP_011523638.1:p.Ala1130Ser
XM_011525337.1:c.3307G>T	XP_011523639.1:p.Ala1103Ser
XM_011525338.1:c.3025G>T	XP_011523640.1:p.Ala1009Ser
XM_011525332.3:c.3508G>T	XP_011523634.1:p.Ala1170Ser
XM_011525333.3:c.3508G>T	XP_011523635.1:p.Ala1170Ser
XM_011525334.2:c.3508G>T	XP_011523636.1:p.Ala1170Ser
XM_011525335.3:c.3448G>T	XP_011523637.1:p.Ala1150Ser
XM_011525336.2:c.3388G>T	XP_011523638.1:p.Ala1130Ser
XM_011525337.2:c.3307G>T	XP_011523639.1:p.Ala1103Ser
XM_011525338.2:c.3025G>T	XP_011523640.1:p.Ala1009Ser
XM_017025200.1:c.2965G>T	XP_016880689.1:p.Ala989Ser
XM_017025201.1:c.2965G>T	XP_016880690.1:p.Ala989Ser
XM_017025202.1:c.1594G>T	XP_016880691.1:p.Ala532Ser
XM_017025203.1:c.1594G>T	XP_016880692.1:p.Ala532Ser
NM_032043.3:c.3448G>T MANE Select	NP_114432.2:p.Ala1150Ser